Friedreich's Ataxia

Definition

 

Hereditary Spinal Cerebellar Ataxia

- degenerative

- onset by age 10

 

Epidemiology

 

AR

 

Pathology

 

Spinal cord shows atrophy of

- cerebellar tracts

- posterior columns

- dorsal root ganglia

- PNS

 

Clinical Features 

 

Cerebellar features

- ataxic gait

- dysarthria

- tremor

- nystagmus

- difficulty with fine motor hand control 

 

Neurological examination shows

- muscle weakness

- decreased vibration sense

- decreased proprioception

- absent DTR

- upgoing plantar response

- positive Rhomberg's Sign

 

May be unilateral at first but becomes bilateral

 

NHx

 

Remissions & stable periods seen

- progression usually slow

- usually confined to wheelchair by 30

 

NCS

 

Marked decreased sensory action potential

Slight decrease in motor conduction velocity

 

Medical Complications

 

Bulbar palsy / Cardiomyopathy

- either may cause death

- usually by age 40

 

Orthopaedic Complications

 

Pes Cavus

 

Scoliosis

 

Similar curve pattern to Idiopathic form

- manage similarly